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MGP000866

UniProt Annotations

Entry Information
Gene Namedihydropyrimidinase
Protein EntryDPYS_HUMAN
UniProt IDQ14117
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity5,6-dihydrouracil + H(2)O = 3- ureidopropanoate.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|Ref.4}; Note=Binds 2 Zn(2+) ions per subunit. {ECO:0000269|Ref.4};
DiseaseDihydropyrimidinase deficiency (DHPD) [MIM:222748]: A disorder characterized by dihydropyrimidinuria and associated with a variable clinical phenotype characterized by epileptic or convulsive attacks, dysmorphic features and severe developmental delay, and congenital microvillous atrophy. {ECO:0000269|PubMed:9718352}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6- dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate.
PtmCarbamylation allows a single lysine to coordinate two zinc ions. {ECO:0000250}.
SimilarityBelongs to the DHOase family. Hydantoinase/dihydropyrimidinase subfamily. {ECO:0000305}.
SubunitHomotetramer. {ECO:0000305|Ref.4}.
Tissue SpecificityLiver and kidney.
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